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Items: 1 to 20 of 26

1.

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

Smon A, Repic Lampret B, Groselj U, Zerjav Tansek M, Kovac J, Perko D, Bertok S, Battelino T, Trebusak Podkrajsek K.

Clin Biochem. 2018 Feb;52:48-55. doi: 10.1016/j.clinbiochem.2017.10.016. Epub 2017 Oct 27.

PMID:
29111448
2.

'MCC' protein interacts with E-cadherin and β-catenin strengthening cell-cell adhesion of HCT116 colon cancer cells.

Benthani FA, Herrmann D, Tran PN, Pangon L, Lucas MC, Allam AH, Currey N, Al-Sohaily S, Giry-Laterriere M, Warusavitarne J, Timpson P, Kohonen-Corish MRJ.

Oncogene. 2018 Feb 1;37(5):663-672. doi: 10.1038/onc.2017.362. Epub 2017 Oct 16.

PMID:
29035389
3.

Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).

Hobert JA, Liu A, Pasquali M.

Curr Protoc Hum Genet. 2016 Oct 11;91:17.25.1-17.25.12. doi: 10.1002/cphg.19.

PMID:
27727436
4.

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L.

Gene. 2016 Dec 15;594(2):203-210. doi: 10.1016/j.gene.2016.09.003. Epub 2016 Sep 4.

PMID:
27601257
5.

A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress.

Zandberg L, van Dyk HC, van der Westhuizen FH, van Dijk AA.

Int J Biochem Cell Biol. 2016 Sep;78:116-129. doi: 10.1016/j.biocel.2016.07.010. Epub 2016 Jul 12.

PMID:
27417235
6.

Qualitative urinary organic acid analysis: 10 years of quality assurance.

Peters V, Bonham JR, Hoffmann GF, Scott C, Langhans CD.

J Inherit Metab Dis. 2016 Sep;39(5):683-687. doi: 10.1007/s10545-016-9941-1. Epub 2016 May 4.

PMID:
27146437
7.

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative.

Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15.

8.

3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?

Wilcken B.

J Inherit Metab Dis. 2016 Mar;39(2):171-2. doi: 10.1007/s10545-015-9906-9. Epub 2015 Dec 11. No abstract available.

PMID:
26660660
9.

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T, Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz Chacham O, Spiegel R.

J Inherit Metab Dis. 2016 Mar;39(2):211-7. doi: 10.1007/s10545-015-9899-4. Epub 2015 Nov 13.

PMID:
26566957
10.

Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".

Minkler PE, Stoll MS, Ingalls ST, Kerner J, Hoppel CL.

Mol Genet Metab. 2015 Dec;116(4):231-41. doi: 10.1016/j.ymgme.2015.10.002. Epub 2015 Oct 8.

11.

Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria.

Alshumrani GA, Patay Z.

Ann Saudi Med. 2015 Jan-Feb;35(1):64-8. doi: 10.5144/0256-4947.2015.64.

12.

Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.

Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, Yang R, Yin X, Yu P, Huang X, Qi M.

Clin Genet. 2015 Nov;88(5):484-8. doi: 10.1111/cge.12535. Epub 2014 Dec 23.

PMID:
25382614
13.

An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.

Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M.

J Pediatr Endocrinol Metab. 2015 May;28(5-6):669-71. doi: 10.1515/jpem-2014-0302.

PMID:
25381946
14.

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Shepard PJ, Barshop BA, Baumgartner MR, Hansen JB, Jepsen K, Smith EN, Frazer KA.

Genet Med. 2015 Aug;17(8):660-7. doi: 10.1038/gim.2014.157. Epub 2014 Nov 6.

15.

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.

Lam C, Carter JM, Cederbaum SD, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong DA.

Mol Genet Metab. 2013 Dec;110(4):477-83. doi: 10.1016/j.ymgme.2013.09.006. Epub 2013 Sep 17.

PMID:
24103308
16.

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15.

17.

Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.

Chen WH, Hsieh SL, Hsu KP, Chen HP, Su XY, Tseng YJ, Chien YH, Hwu WL, Lai F.

J Med Internet Res. 2013 May 23;15(5):e98. doi: 10.2196/jmir.2495.

18.

Hospital utilization, costs, and mortality for adults with multiple chronic conditions, Nationwide Inpatient Sample, 2009.

Steiner CA, Friedman B.

Prev Chronic Dis. 2013 Apr 25;10:E62. doi: 10.5888/pcd10.120292.

19.

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A.

Mol Genet Metab. 2012 Aug;106(4):439-41. doi: 10.1016/j.ymgme.2012.04.006. Epub 2012 Apr 20.

PMID:
22658692
20.

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR.

Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31.

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